相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten
Nina Raben et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C
Sharon Zhou et al.
AMERICAN JOURNAL OF PATHOLOGY (2011)
Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
Joseph R. Mazzulli et al.
CELL (2011)
Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance
Diego L. Medina et al.
DEVELOPMENTAL CELL (2011)
Sphingolipid Storage Affects Autophagic Metabolism of the Amyloid Precursor Protein and Promotes Aβ Generation
Irfan Y. Tamboli et al.
JOURNAL OF NEUROSCIENCE (2011)
Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction
Hiroshi Kobayashi et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Mucolipidosis type IV: An update
Kazuyo Wakabayashi et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Role of TRP Channels in the Regulation of the Endosomal Pathway
Ken Abe et al.
PHYSIOLOGY (2011)
TFEB Links Autophagy to Lysosomal Biogenesis
Carmine Settembre et al.
SCIENCE (2011)
Clarifying lysosomal storage diseases
Mark L. Schultz et al.
TRENDS IN NEUROSCIENCES (2011)
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease
Nina Raben et al.
AUTOPHAGY (2010)
Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles
Eva Masiero et al.
AUTOPHAGY (2010)
Autophagosome maturation is impaired in Fabry disease
Marc Chevrier et al.
AUTOPHAGY (2010)
Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations
Ju-Hyun Lee et al.
CELL (2010)
Methods in Mammalian Autophagy Research
Noboru Mizushima et al.
CELL (2010)
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders
Alessandro Fraldi et al.
EMBO JOURNAL (2010)
Mucolipins: Intracellular TRPML1-3 channels
Xiping Cheng et al.
FEBS LETTERS (2010)
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
Anna M. Vaccaro et al.
HUMAN MOLECULAR GENETICS (2010)
Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
Ying Sun et al.
HUMAN MOLECULAR GENETICS (2010)
Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease
Sengen Xu et al.
JOURNAL OF APPLIED PHYSIOLOGY (2010)
Starch Binding Domain-containing Protein 1/Genethonin 1 Is a Novel Participant in Glycogen Metabolism
Sixin Jiang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy
David A. Zeevi et al.
JOURNAL OF CELL SCIENCE (2010)
Functional Multimerization of Mucolipin Channel Proteins
Cyntia Curcio-Morelli et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2010)
Pathogenic Lysosomal Depletion in Parkinson's Disease
Benjamin Dehay et al.
JOURNAL OF NEUROSCIENCE (2010)
Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
Nina Raben et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Termination of autophagy and reformation of lysosomes regulated by mTOR
Li Yu et al.
NATURE (2010)
Macroautophagy is defective in mucolipin-1-deficient mouse neurons
Cyntia Curcio-Morelli et al.
NEUROBIOLOGY OF DISEASE (2010)
Pathology and Current Treatment of Neurodegenerative Sphingolipidoses
Matthias Eckhardt
NEUROMOLECULAR MEDICINE (2010)
PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome
Xian-ping Dong et al.
NATURE COMMUNICATIONS (2010)
Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells
Barbara Karten et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2009)
Lysosomal disorders: From storage to cellular damage
Andrea Ballabio et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol
Hyock Joo Kwon et al.
CELL (2009)
Lysosomal enhancement A CLEAR answer to cellular degradative needs
Marco Sardiello et al.
CELL CYCLE (2009)
Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies
S. Sarkar et al.
CELL DEATH AND DIFFERENTIATION (2009)
Chaperone-Mediated Autophagy is Defective in Mucolipidosis Type IV
Bhuvarahamurthy Venugopal et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2009)
Pathogenic cascades in lysosomal disease-Why so complex?
S. U. Walkley
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
Neuropathology of the Mcoln1-/- Knockout Mouse Model of Mucolipidosis Type IV
Matthew C. Micsenyi et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2009)
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts
Takanobu Otomo et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1-phosphatidylinositol-3-kinase complex
Yun Zhong et al.
NATURE CELL BIOLOGY (2009)
Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
Cristin D. Davidson et al.
PLOS ONE (2009)
Lysosomal Storage Disorders in the Newborn
Orna Staretz-Chacham et al.
PEDIATRICS (2009)
Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy
Kazuhiro Ohmi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The Ca2+ Channel TRPML3 Regulates Membrane Trafficking and Autophagy
Hyun Jin Kim et al.
TRAFFIC (2009)
TRPMLs: in sickness and in health
Rosa Puertollano et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2009)
Lysosomal storage diseases as disorders of autophagy
Carmine Settembre et al.
AUTOPHAGY (2008)
Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis
Ayumi Takamura et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Regulation of sterol transport between membranes and NPC2
Zhi Xu et al.
BIOCHEMISTRY (2008)
Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification
Carmine Settembre et al.
GENES & DEVELOPMENT (2008)
Autophagic dysfunction in mucolipidosis type IV patients
Silvia Vergarajauregui et al.
HUMAN MOLECULAR GENETICS (2008)
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
Nina Raben et al.
HUMAN MOLECULAR GENETICS (2008)
Structural basis for sorting mechanism of p62 in selective autophagy
Yoshinobu Ichimura et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Autophagy induction and autophagosome clearance in neurons: Relationship to autophagic pathology in Alzheimer's disease
Barry Boland et al.
JOURNAL OF NEUROSCIENCE (2008)
Lysosomal storage disease 2 - Pompe's disease
Ans T. van der Ploeg et al.
LANCET (2008)
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel
Xian-Ping Dong et al.
NATURE (2008)
NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes
Rodney E. Infante et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
A block of autophagy in lysosomal storage disorders
Carmine Settembre et al.
HUMAN MOLECULAR GENETICS (2008)
Lysosomal trafficking functions of mucolipin-I in murine macrophages
Eric G. Thompson et al.
BMC CELL BIOLOGY (2007)
Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice
Masaaki Komatsu et al.
CELL (2007)
Neurologic, gastric, and opthalmologic Pathologies in a murine model of Mucolipidosis type IV
Bhuvarahamurthy Venugopal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Deconstructing Pompe disease by analyzing single muscle fibers
Nina Raben et al.
AUTOPHAGY (2007)
Aberrant membranes and double-membrane structures accumulate in the Axons of Atg5-null Purkinje cells before neuronal death
Jun Nishiyama et al.
AUTOPHAGY (2007)
Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npcl-/- mouse brain
Guanghong Liao et al.
AMERICAN JOURNAL OF PATHOLOGY (2007)
p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy
Serhiy Pankiv et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Ubiquitin-dependent sorting of integral membrane proteins for degradation in lysosomes
Robert C. Piper et al.
CURRENT OPINION IN CELL BIOLOGY (2007)
Lysosomes: fusion and function
J. Paul Luzio et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects
Chris D. Pacheco et al.
HUMAN MOLECULAR GENETICS (2007)
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency
Carmine Settembre et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Mitochondrial aberrations in mucolipidosis type IV
John J. Jennings et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
Beth L. Thurberg et al.
LABORATORY INVESTIGATION (2006)
Lysosomal exocytosis is impaired in mucolipidosis type IV
Janice M. LaPlante et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease
Tokiko Fukuda et al.
MOLECULAR THERAPY (2006)
The roles of intracellular protein-degradation pathways in neurodegeneration
David C. Rubinsztein
NATURE (2006)
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
Yi Cao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
Taichi Hara et al.
NATURE (2006)
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase α/β-subunits precursor gene
M Kudo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Eija Siintola et al.
BRAIN (2006)
Uncoupling of longevity and telomere length in C-elegans (vol 1, pg 295, 2005)
M Raices et al.
PLOS GENETICS (2005)
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease)
M Koike et al.
AMERICAN JOURNAL OF PATHOLOGY (2005)
p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
G Bjorkoy et al.
JOURNAL OF CELL BIOLOGY (2005)
Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease
SU Walkley et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2005)
Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase
S Tiede et al.
NATURE MEDICINE (2005)
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolliplidoslis type II or type IIIA
KH Paik et al.
HUMAN MUTATION (2005)
Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
N Raben et al.
MOLECULAR THERAPY (2005)
Aberrant phosphorylation of α-synuclein in human Niemann-Pick type C1 disease
Y Saito et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2004)
Regulation of collagenase activities of human cathepsins by glycosaminoglycans
ZQ Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
The role of autophagy during the early neonatal starvation period
A Kuma et al.
NATURE (2004)
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
B Ravikumar et al.
NATURE GENETICS (2004)
The NPC1 protein: structure implies function
C Scott et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2004)
Consequences of NPC1 and NPC2 loss of function in mammalian neurons
SU Walkley et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2004)
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging
S Bonavita et al.
JOURNAL OF CHILD NEUROLOGY (2003)
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases
MP Cosma et al.
CELL (2003)
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Cα-formylglycine generating enzyme
T Dierks et al.
CELL (2003)
Niemann-Pick type C disease:: Accelerated neurofibrillary tangle formation and amyloid β deposition associated with apolipoprotein E ε4 homozygosity
Y Saito et al.
ANNALS OF NEUROLOGY (2002)
The neurogenetics of mucolipidosis type IV
G Altarescu et al.
NEUROLOGY (2002)
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
B Ravikumar et al.
HUMAN MOLECULAR GENETICS (2002)
Multidrug permeases and subcellular cholesterol transport
YA Ioannou
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses
KE Wisniewski et al.
NEUROLOGY (2001)
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
H Fares et al.
NATURE GENETICS (2001)
Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene et al.
SCIENCE (2000)
Cloning of the gene encoding a novel integral membrane protein, mucolipidin - and identification of the two major founder mutations causing mucolipidosis type IV
MT Bassi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
M Sun et al.
HUMAN MOLECULAR GENETICS (2000)
Identification of the gene causing mucolipidosis type IV
R Bargal et al.
NATURE GENETICS (2000)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
I Nishino et al.
NATURE (2000)
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
Y Tanaka et al.
NATURE (2000)
分享论文
